rs759858813
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 5 | Familial Hypercholesterolemia |
Make rs759858813(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11120482 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs759858813 |
dbSNP (classic) | rs759858813 |
ClinGen | rs759858813 |
ebi | rs759858813 |
HLI | rs759858813 |
Exac | rs759858813 |
Gnomad | rs759858813 |
Varsome | rs759858813 |
LitVar | rs759858813 |
Map | rs759858813 |
PheGenI | rs759858813 |
Biobank | rs759858813 |
1000 genomes | rs759858813 |
hgdp | rs759858813 |
ensembl | rs759858813 |
geneview | rs759858813 |
scholar | rs759858813 |
rs759858813 | |
pharmgkb | rs759858813 |
gwascentral | rs759858813 |
openSNP | rs759858813 |
23andMe | rs759858813 |
SNPshot | rs759858813 |
SNPdbe | rs759858813 |
MSV3d | rs759858813 |
GWAS Ctlg | rs759858813 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs759858813(G;G) rs759858813(T;T) |
Alt | rs759858813(G;G) rs759858813(T;T) |
Reference | Rs759858813(C;C) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11231158C>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000237946.1, |